Trisomy 18

Khalil Zouiten, MD JF.Colombani, MD O.Bencheikh, MD

This is a 37-year-old G4P 3 patient with unremarkable history. Her examination at 16 weeks demonstrated:

  • micrognathia

  • large fontanelles (on 3D)

  • dysgenesis of the corpus callosum on the sagittal section

  • choroid plexus cysts

  • radial ray aplasia with club hand on one side and isolated club hand on the other

This combination of findings suggested trisomy 18 which was confirmed after termination.

Micrognathia

tri18-k1a
tri18-k1h

Large fontanelles (on 3D)

tri18-k1b
tri18-k1i

t18b

Dysgenesis of the corpus callosum on the sagittal section

tri18-k1e

Choroid plexus cysts

tri18-k1d

Radial ray aplasia with club hand on one side and isolated club hand on the other

t18a
t18c

tri18-k1c
tri18-k1k
 

tri18-k1g

The fetus after termination:

tri18-k1l

tri18-k1j

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